Insulinoma in pediatric tuberous sclerosis complex: a case report by Katia Librandi, Serena Grimaldi, Silvia Catalano, Francesco Moro, Stefano Gabriele Vallero, Marco Spada, Francesco Porta

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Neonatal screening for biotinidase deficiency: A 30-year single center experience by Francesco Porta, Veronica Pagliardini, Isabella Celestino, Enza Pavanello, Severo Pagliardini, Ornella Guardamagna, Alberto Ponzone, Marco Spada

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Comparison of three treatment protocols with intra-articular low or intermediate molecular weight hyaluronic acid in early symptomatic knee osteoarthritis by Felice Galluccio, Daniela D’Angela, Barbara Polistena, Francesco Porta, Tatiana Barskova, Lorenzo Tofani, Federico Spandonaro, Marco Matucci-Cerinic

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Adult-onset CblC deficiency: a challenging diagnosis involving different adult clinical specialists by Silvia Kalantari, Brigida Brezzi, Valeria Bracciamà, Antonella Barreca, Paolo Nozza, Tiziana Vaisitti, Antonio Amoroso, Silvia Deaglio, Marco Manganaro, Francesco Porta, Marco Spada

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Metabolic pseudoprogression in a patient with metastatic KIT exon 11 GIST after 1 month of first-line imatinib: a case report by Elisa Tassinari, Nicole Conci, Giacomo Battisti, Francesco Porta, Valerio Di Scioscio, Maria Giulia Pirini, Dario de Biase, Maria Concetta Nigro, Miriam Iezza, Miriam Iezza, Fausto Castagnetti, Fausto Castagnetti, Luigi Lovato, Stefano Fanti, Maria Abbondanza Pantaleo, Maria Abbondanza Pantaleo, Margherita Nannini, Margherita Nannini

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Which are the most frequently involved peripheral joints in calcium pyrophosphate crystal deposition at imaging? A systematic literature review and meta-analysis by the OMERACT ult... by Antonella Adinolfi, Silvia Sirotti, Garifallia Sakellariou, Garifallia Sakellariou, Edoardo Cipolletta, Emilio Filippucci, Francesco Porta, Anna Zanetti, Nicola Ughi, Nicola Ughi, Piercarlo Sarzi-Puttini, Piercarlo Sarzi-Puttini, Carlo Alberto Scirè, Carlo Alberto Scirè, Helen Keen, Carlos Pineda, Lene Terslev, Maria Antonietta D’Agostino, Georgios Filippou

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Human ultrarare genetic disorders of sulfur metabolism demonstrate redundancies in H2S homeostasis by Viktor Kožich, Bernd C Schwahn, Jitka Sokolová, Michaela Křížková, Tamas Ditroi, Jakub Krijt, Youssef Khalil, Tomáš Křížek, Tereza Vaculíková-Fantlová, Blanka Stibůrková, Philippa Mills, Peter Clayton, Kristýna Barvíková, Holger Blessing, Jolanta Sykut-Cegielska, Carlo Dionisi-Vici, Serena Gasperini, Ángeles García-Cazorla, Tobias B Haack, Tomáš Honzík, Pavel Ješina, Alice Kuster, Lucia Laugwitz, Diego Martinelli, Francesco Porta, René Santer, Guenter Schwarz, Peter Nagy

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Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies by Thomas Opladen, Eduardo López-Laso, Elisenda Cortès-Saladelafont, Toni S. Pearson, H. Serap Sivri, Yilmaz Yildiz, Birgit Assmann, Manju A. Kurian, Vincenzo Leuzzi, Simon Heales, Simon Pope, Francesco Porta, Angeles García-Cazorla, Tomáš Honzík, Roser Pons, Luc Regal, Helly Goez, Rafael Artuch, Georg F. Hoffmann, Gabriella Horvath, Beat Thöny, Sabine Scholl-Bürgi, Alberto Burlina, Marcel M. Verbeek, Mario Mastrangelo, Jennifer Friedman, Tessa Wassenberg, Kathrin Jeltsch, Jan Kulhánek, Oya Kuseyri Hübschmann, on behalf of the International Working Group on Neurotransmitter related Disorders (iNTD)

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Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines by Oya Kuseyri Hübschmann, Gabriella Horvath, Elisenda Cortès-Saladelafont, Yılmaz Yıldız, Mario Mastrangelo, Roser Pons, Jennifer Friedman, Saadet Mercimek-Andrews, Suet-Na Wong, Toni S. Pearson, Dimitrios I. Zafeiriou, Jan Kulhánek, Manju A. Kurian, Eduardo López-Laso, Mari Oppebøen, Sebile Kılavuz, Tessa Wassenberg, Helly Goez, Sabine Scholl-Bürgi, Francesco Porta, Tomáš Honzík, René Santer, Alberto Burlina, H. Serap Sivri, Vincenzo Leuzzi, Georg F. Hoffmann, Kathrin Jeltsch, Daniel Hübschmann, Sven F. Garbade, iNTD Registry Study Group, Angeles García-Cazorla, Thomas Opladen

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Expanded Newborn Screening in Italy Using Tandem Mass Spectrometry: Two Years of National Experience by Margherita Ruoppolo, Sabrina Malvagia, Sara Boenzi, Carla Carducci, Carlo Dionisi-Vici, Francesca Teofoli, Alberto Burlina, Antonio Angeloni, Tommaso Aronica, Andrea Bordugo, Ines Bucci, Marta Camilot, Maria Teresa Carbone, Roberta Cardinali, Claudia Carducci, Michela Cassanello, Cinzia Castana, Chiara Cazzorla, Renzo Ciatti, Simona Ferrari, Giulia Frisso, Silvia Funghini, Francesca Furlan, Serena Gasperini, Vincenza Gragnaniello, Chiara Guzzetti, Giancarlo La Marca, Luisa La Spina, Tania Lorè, Concetta Meli, MariaAnna Messina, Amelia Morrone, Francesca Nardecchia, Rita Ortolano, Giancarlo Parenti, Enza Pavanello, Damiana Pieragostino, Sara Pillai, Francesco Porta, Francesca Righetti, Claudia Rossi, Valentina Rovelli, Alessandro Salina, Laura Santoro, Pina Sauro, Maria Cristina Schiaffino, Simonetta Simonetti, Monica Vincenzi, Elisabetta Tarsi, Anna Paola Uccheddu

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